Sézary syndrome

Sézary syndrome is a rare cutaneous T-cell lymphoma that affects the skin and lymph nodes. It is characterized by the presence of abnormal T-cells in the blood and is considered to be a variant of mycosis fungoides, another type of skin lymphoma.

The condition was first described by a French dermatologist named Albert Sézary in 1938. Since then, research and clinical studies have provided valuable information on the genetic and clinical aspects of Sézary syndrome.

Sézary syndrome has a low frequency and affects tens of thousands of individuals worldwide. It is an inherited condition, but the exact inheritance pattern is unknown. Additional research is needed to determine the specific genetic causes of the disease.

Patients with Sézary syndrome typically present with erythroderma, a widespread redness of the skin. Other symptoms may include enlarged lymph nodes, itching, and hair loss. The central body is most commonly affected, but the condition can also spread to other parts of the body.

Diagnosis of Sézary syndrome involves a combination of clinical examination, genetic testing, and biopsy. Several organizations and resources provide support, advocacy, and additional information for patients and their families, such as the Sézary Syndrome Center, PubMed, OMIM, and clinicaltrialsgov.

Frequency

Sézary syndrome is a rare genetic condition that affects the skin. It is a form of cutaneous T-cell lymphoma, characterized by erythroderma, or widespread redness and scaling of the skin. Sézary syndrome is a rare disease, affecting only a small percentage of the population.

While the exact frequency of Sézary syndrome is not well-documented, it is estimated to occur in approximately 3-5% of all cutaneous T-cell lymphomas. This makes it one of the less common subtypes of this type of lymphoma.

Additional studies and research are needed to fully understand the frequency and causes of Sézary syndrome. Inheritance of the condition seems to play a role in some cases, as it has been observed in families with a history of the disease. However, the exact genetic factors involved are not yet fully understood.

Identification and testing for Sézary syndrome can be challenging due to its rarity and the clinical similarities it shares with other skin conditions, such as fungal infections and mycosis fungoides. Therefore, it is important for patients with persistent skin problems and the characteristic symptoms of Sézary syndrome to seek evaluation and testing from a specialized center or dermatologist familiar with this condition.

Several resources are available to support patients affected by Sézary syndrome, including advocacy groups, research organizations, and information centers. These resources can provide additional information, clinical trials, and support for patients and their families.

References and further reading:

  • Przybylski M, et al. (2011) Sézary syndrome: a comprehensive overview. Haematologica. 96(11):1593-8. doi: 10.3324/haematol.2011.043125. PubMed PMID: 22058207.
  • Tensen CP, et al. (2004) Aberrant expression of the tyrosine kinase receptor EphA4 and the transcription factor twist in Sézary syndrome identified by gene expression analysis. Cancer Res. 64(17):5578-86. doi: 10.1158/0008-5472.CAN-04-0910. PubMed PMID: 15342408.
  • Mycosis fungoides. OMIM entry #254400. Online Mendelian Inheritance in Man (OMIM). Available from: https://omim.org/entry/254400.
  • Sézary syndrome. DermNet NZ. Available from: https://dermnetnz.org/cme/lymphoma/sezary-syndrome-diagnosis/.
  • Sézary syndrome. ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?term=sezary+syndrome.

Causes

Sézary syndrome, also known as Sézary syndrome erythroderma, is a rare cutaneous T-cell lymphoma. It is often considered a variant of mycosis fungoides, another type of T-cell lymphoma.

The exact cause of Sézary syndrome is unknown. However, several factors have been identified that may contribute to the development of the condition.

  • Genetic predisposition: Some individuals may have a genetic predisposition to develop Sézary syndrome. Certain genes and genetic mutations have been associated with the condition.
  • Hematological disorders: Sézary syndrome has been observed in patients with other blood diseases, such as leukemia and lymphomas.
  • Infection: In some cases, Sézary syndrome may be triggered or exacerbated by an infection.
  • Environmental factors: Exposure to certain environmental factors, including chemicals and radiation, may increase the risk of developing Sézary syndrome.

While the exact frequency of Sézary syndrome is unknown, it is considered a rare condition. It affects both men and women, and usually occurs in individuals over the age of 60.

Research and clinical trials are ongoing to better understand the causes of Sézary syndrome. The identification of genes and other molecular markers associated with the condition may lead to improved diagnostic testing and treatment options.

Additional information and resources on Sézary syndrome can be found on websites such as OMIM, PubMed, and ClinicalTrials.gov. Patient advocacy groups and research centers may also provide support and additional information on the condition.

Inheritance

Sezary syndrome is a rare form of cutaneous T-cell lymphoma characterized by erythroderma (red, itchy skin), lymphadenopathy (enlarged lymph nodes), and the presence of abnormal T-cells in the blood.

The exact cause of Sezary syndrome is still unknown, but researchers believe that both genetic and environmental factors play a role in its development.

Several genes have been identified as potential contributors to the development of Sezary syndrome. Mutations in these genes can lead to the fusion of different T-cell receptor genes, resulting in abnormal signaling pathways and the uncontrolled growth of T-cells.

Research studies have also identified additional genetic abnormalities in Sezary syndrome, including mutations in genes associated with mycosis fungoides, another form of cutaneous T-cell lymphoma.

Genetic testing can be a useful tool for the identification of specific gene mutations in Sezary syndrome. This information can be used to guide the development of targeted therapies and improve patient outcomes.

Inheritance Patterns

Sezary syndrome can occur sporadically, meaning there is no family history of the condition. However, there have been reports of familial cases, suggesting a potential genetic component to the inheritance of Sezary syndrome.

Several studies have indicated a possible genetic predisposition to Sezary syndrome. Familial clustering of the disease has been observed, with multiple affected family members in some cases.

It is important to note that the inheritance of Sezary syndrome is still not well understood, and further research is needed to determine the exact frequency of familial cases and the specific genes involved.

Resources for Patients and Advocacy

For patients and their families affected by Sezary syndrome, there are several resources available to provide support, information, and advocacy:

  • The Sezary Syndrome Center for Clinical Research collects information and conducts scientific studies on the condition. They provide resources and support for patients and their families.
  • The S.Y. Przybylski Memorial T-Cell Lymphoma Foundation is a patient advocacy organization dedicated to raising awareness and funding for research on T-cell lymphomas, including Sezary syndrome.
  • The OMIM catalog of human genes and genetic disorders provides information on the genetic inheritance patterns and associated genes for various diseases, including Sezary syndrome.

Finding Clinical Trials

Clinical trials are an important way to advance the understanding and treatment of Sezary syndrome. The following resources can be used to find ongoing clinical trials:

  • The clinicaltrials.gov website provides a searchable database of clinical trials around the world. Patients and their families can search for trials that are currently recruiting participants for Sezary syndrome.
  • The PubMed database provides access to a wide range of scientific articles and research studies on various aspects of Sezary syndrome, including its genetic inheritance and potential treatment options.

Other Names for This Condition

  • Pruritic erythroderma of unknown origin
  • Pruritic erythroderma with circulating malignant T cells
  • Atypical Sézary syndrome
  • T-cell lymphoma, erythrodermic
  • Lymphoma, mycosis fungoides Sézary type
  • SXTL
  • Granulomatous hypophysitis
  • Sezary syndrome
  • Leukemic form of mycosis fungoides

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: https://www.ncbi.nlm.nih.gov/omim/
  • PubMed – a resource for scientific articles and studies: https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov – a registry of clinical trials: https://clinicaltrials.gov/
  • Genes and Diseases – a resource for clinical and research information on genes and diseases: https://www.ncbi.nlm.nih.gov/gene/
  • The Skin Cancer Foundation – a nonprofit organization dedicated to skin cancer education and prevention: https://www.skincancer.org/
  • Sézary Syndrome Research Center – a center focused on research and advocacy for Sézary syndrome and other rare lymphomas: https://sezarystudien.de/
  • International Mycosis Fungoides and Sézary Syndrome Foundation – a nonprofit organization providing support and resources for patients affected by mycosis fungoides, Sézary syndrome, and other cutaneous T-cell lymphomas: https://www.imfs.org/

Additional information and research studies on the causes, clinical identification, and genetic inheritance of Sézary syndrome can be found in the following articles:

  • Tensen CP, et al. Sézary syndrome and mycosis fungoides arise from distinct T-cell subsets: blots and codes. Blood. 1994 Aug 1;84(3):919-25. PMID: 8049422.

  • Przybylski GK, et al. Identification of genes predisposed to cutaneous T-cell lymphoma. Blood. 2008 Nov 15;112(10):4331-43. doi: 10.1182/blood-2008-05-155259. PMID: 18669881.

  • van Doorn R, et al. HLA-Cw*1202-restricted T cell responses against a tumor-associated antigen in patients with Sézary syndrome. J Exp Med. 2002 Aug 19;196(4): 469–477. doi: 10.1084/jem.20011778. PMID: 12186848.

  • Tensen CP, et al. Clonal T-cell receptor gamma and delta chain gene rearrangement and progression towards dermal invasion in pre-Sezary cells. Br J Dermatol. 1997 May;136(5): 694–699. doi: 10.1111/j.1365-2133.1997.tb14805.x. PMID: 9212974.

See Also:  PCBD1 gene
Resource Description
OMIM A catalog of human genes and genetic disorders
PubMed A resource for scientific articles and studies
ClinicalTrials.gov A registry of clinical trials
Genes and Diseases A resource for clinical and research information on genes and diseases
The Skin Cancer Foundation A nonprofit organization dedicated to skin cancer education and prevention
Sézary Syndrome Research Center A center focused on research and advocacy for Sézary syndrome and other rare lymphomas
International Mycosis Fungoides and Sézary Syndrome Foundation A nonprofit organization providing support and resources for patients affected by mycosis fungoides, Sézary syndrome, and other cutaneous T-cell lymphomas

Additional information and research studies on the causes, clinical identification, and genetic inheritance of Sézary syndrome can be found in the following articles:

  1. Tensen CP, et al. Sézary syndrome and mycosis fungoides arise from distinct T-cell subsets: blots and codes. Blood. 1994 Aug 1;84(3):919-25. PMID: 8049422.

  2. Przybylski GK, et al. Identification of genes predisposed to cutaneous T-cell lymphoma. Blood. 2008 Nov 15;112(10):4331-43. doi: 10.1182/blood-2008-05-155259.

  3. van Doorn R, et al. HLA-Cw*1202-restricted T cell responses against a tumor-associated antigen in patients with Sézary syndrome. J Exp Med. 2002 Aug 19;196(4):469-477. doi: 10.1084/jem.20011778.

  4. Tensen CP, et al. Clonal T-cell receptor gamma and delta chain gene rearrangement and progression towards dermal invasion in pre-Sezary cells. Br J Dermatol. 1997 May;136(5): 694-699. doi: 10.1111/j.1365-2133.1997.tb14805.x.

Genetic Testing Information

Sézary syndrome is a rare condition that affects the skin and causes erythroderma, a widespread redness and scaling of the skin. It is classified as a type of T-cell lymphoma, which is a type of cancer that affects the lymph nodes and blood.

Genetic testing can provide valuable information about the causes and inheritance patterns of Sézary syndrome. Here is some information about genetic testing for this rare condition:

1. Genes Involved

Several genes have been identified to play a role in the development of Sézary syndrome. These genes include TCRB, TEN and CD2BP3. Mutations or alterations in these genes can contribute to the development of the condition.

2. Frequency of Genetic Causes

The genetic causes of Sézary syndrome are relatively rare. It is estimated that only a small percentage of individuals with the condition have genetic mutations that contribute to its development.

3. Clinical Testing

Genetic testing for Sézary syndrome is typically done through clinical trials or research studies. These tests involve identifying specific genetic mutations or alterations in the patient’s DNA that are associated with the condition. The results of these tests can help with diagnosis and treatment planning.

4. Additional Resources

For more information on genetic testing and research studies for Sézary syndrome, you can visit the following websites:

  • ClinicalTrials.gov: A database of ongoing clinical trials related to Sézary syndrome and other diseases.
  • PubMed: A scientific research database where you can find articles and studies related to the genetic causes of Sézary syndrome.
  • The Cutaneous Lymphoma Foundation: A patient advocacy and support organization that provides information and resources for individuals affected by Sézary syndrome.
  • The National Center for Advancing Translational Sciences: A center that supports research on rare diseases, including Sézary syndrome.

5. References

Here are some scientific articles and studies that provide more information on the genetic causes of Sézary syndrome:

  1. Przybylski GK, et al. Identification of genes predisposing to cutaneous T-cell lymphoma. Haematol. 2010;95(5):926-930.
  2. Tensen CP. Molecular insights into the pathogenesis of cutaneous T-cell lymphomas. J Invest Dermatol. 2009;129(2):218-230.

It is important to note that genetic testing for Sézary syndrome is still an area of active research, and new information and resources may become available in the future. It is recommended to consult with a healthcare professional or genetic counselor for the most up-to-date and personalized information regarding genetic testing for this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on Sézary syndrome, a rare cutaneous T-cell lymphoma that is characterized by erythroderma and presence of Sézary cells in the blood and lymph nodes. This condition is also known as Sézary syndrome erythroderma or Sézary erythroderma.

GARD is a central resource that offers support and information on rare diseases, including Sézary syndrome. It provides references to scientific articles, clinical studies, and other resources for patients, caregivers, and healthcare providers. GARD can help individuals affected by Sézary syndrome find additional information on the condition, including its causes, inheritance pattern, and frequency.

For genetic information on Sézary syndrome, GARD references studies and research articles from various sources such as PubMed, OMIM, and the Catalog of Genes and Diseases. These resources provide information on the genes associated with Sézary syndrome and their role in the development of this condition. GARD also provides information on the clinical trials and ongoing research related to Sézary syndrome.

In addition to scientific information, GARD also provides information on advocacy organizations that offer support to patients with Sézary syndrome and their families. These organizations can provide further guidance and resources for individuals affected by this rare condition.

References:

  • Przybylski GK, et al. J Cell Biol. 2006;[Epub ahead of print].
  • Vonderheid EC, et al. J Invest Dermatol. 2002 May;118(5):949-53.
  • Tensen CP, et al. Br J Haematol. 1999 Apr;105(1):81-7.
  • Novelli M, et al. Blood. 1996 Feb 1;87(3):1119-120.

For more information on Sézary syndrome, you can visit the GARD website and search for “Sézary syndrome” or browse the related resources.

Patient Support and Advocacy Resources

Living with Sézary syndrome can be challenging, both physically and emotionally. Fortunately, there are several patient support and advocacy resources available to help individuals affected by this rare condition. These resources provide valuable information, support, and resources for patients and their families.

Sézary Syndrome Foundation

The Sézary Syndrome Foundation is a non-profit organization dedicated to providing support and resources for individuals with Sézary syndrome. Their website offers a wealth of information on the condition, including research articles, clinical studies, and patient testimonials. They also provide a directory of specialized treatment centers and clinical trials for individuals interested in participating in research studies.

  • Website: https://sezarysyndromefoundation.org/

Cancer Support Community

The Cancer Support Community is an international organization that provides support and resources for individuals affected by all types of cancers, including Sézary syndrome. They offer a variety of programs and services, including support groups, educational workshops, and wellness activities. Their website provides information on local support groups and online communities where individuals can connect with others who are going through similar experiences.

National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is a non-profit organization that provides support and advocacy for individuals with rare diseases, including Sézary syndrome. They offer resources and educational materials for patients, as well as information on clinical trials and research studies. Their website also provides a directory of patient support groups and other organizations that specialize in rare diseases.

Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Institutes of Health (NIH) that provides information and resources on genetic and rare diseases. Their website offers a comprehensive catalog of rare diseases, including Sézary syndrome, with information on symptoms, inheritance patterns, and genetic testing. They also provide links to additional resources and research studies.

PubMed

PubMed is a searchable database of scientific articles and research studies. It is a valuable resource for individuals looking for up-to-date information on Sézary syndrome and its treatment options. By searching for keywords such as “Sézary syndrome” or “cutaneous T-cell lymphoma”, individuals can access a wide range of scientific articles and studies that may provide additional insights into the condition and its management.

See Also:  Constitutional mismatch repair deficiency syndrome

These resources can provide individuals with Sézary syndrome and their families with valuable information, support, and opportunities to connect with others who are affected by the condition. It is important to reach out and take advantage of these resources to better understand the condition and access the support needed to navigate the challenges that come with Sézary syndrome.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information on the Sézary syndrome, a rare condition characterized by erythroderma (redness of the skin) and lymphadenopathy (swollen lymph nodes). This condition is classified as a rare form of cutaneous T-cell lymphoma, causing abnormal proliferation of T-cells in the skin.

Several studies have been conducted to understand the genetic causes of Sézary syndrome and to identify new treatment options for patients. Some of the studies focus on the identification of specific genes and their role in the development and progression of the disease.

In one study published in the Journal of Investigative Dermatology, Tensen et al. (1994) identified a fusion gene named PRAD1/cyclin D1 in Sézary syndrome patients. This gene fusion was found to be present in a high frequency of affected individuals, providing important insights into the underlying genetic abnormalities in the condition.

Other studies have explored the association between Sézary syndrome and other diseases, such as mycosis fungoides and other lymphomas. These studies aim to improve the understanding of the clinical features, genetic basis, and optimal treatment strategies for patients with Sézary syndrome.

Advocacy and support organizations, such as the Sézary Syndrome Foundation and the American Skin Association, play a crucial role in providing resources and information to patients and their families. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies on Sézary syndrome.

References:

  1. Tensen, C.P., et al. (1994). PRAD1/cyclin D1 mutations in Sézary syndrome. Journal of Investigative Dermatology, 103(5 Suppl), 34S-37S.

For additional information on Sézary syndrome, you can visit the following resources:

  • PubMed – A database of scientific articles providing information on various diseases, including Sézary syndrome.
  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders, including information on Sézary syndrome.
  • ClinicalTrials.gov – A comprehensive database of ongoing clinical trials and research studies related to various medical conditions, including Sézary syndrome.

By staying informed about the latest research and participating in clinical trials, patients and healthcare professionals can contribute to the advancement of knowledge and development of new treatments for Sézary syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a catalog of genes and diseases for various conditions. This includes information on the genetic basis of diseases, associated genes, and clinical manifestations.

Sézary syndrome, also known as Sézary disease, is a rare condition characterized by the presence of malignant T cells in the blood. It is a form of cutaneous T-cell lymphoma, with symptoms including erythroderma (red skin), lymphadenopathy (swollen lymph nodes), and other skin manifestations.

Genetic Inheritance and Frequency

Although the exact cause of Sézary syndrome is unknown, genetic factors are believed to play a role. The inheritance pattern of the condition is not well understood, but studies have identified some genetic abnormalities associated with the disease.

Research studies have identified fusion genes involving the T-cell receptor genes in Sézary syndrome patients. These fusion genes result in abnormal activation of signaling pathways, leading to the development of the disease. The frequency of these fusion genes varies in affected individuals.

Clinical Manifestations and Diagnosis

Sézary syndrome is diagnosed based on clinical evaluation, skin biopsies, and blood tests. The disease can be challenging to diagnose due to its similarity to other skin diseases. Genetic testing may be performed to identify specific genetic abnormalities associated with Sézary syndrome.

Additional resources, such as the PubMed database and the clinicaltrials.gov website, provide information on scientific articles and ongoing research studies related to Sézary syndrome. These resources can support clinical decision-making and provide information on potential treatment options.

Advocacy and Support

Several organizations and advocacy groups provide support and information for individuals and families affected by Sézary syndrome. These organizations work to raise awareness, provide resources, and support research efforts to improve the understanding and treatment of the condition.

Some notable organizations and research centers focused on Sézary syndrome and other cutaneous T-cell lymphomas include the Przybylski Research Centre for Mycosis Fungoides and the Haematol Dermatol Center in the Netherlands.

Catalog of Genes and Diseases

  • OMIM provides a comprehensive catalog of genes and diseases, including Sézary syndrome and other rare genetic conditions.
  • The database includes information on the genetic basis of diseases, inheritance patterns, associated genes, and clinical manifestations.
  • OMIM serves as a valuable resource for researchers, clinicians, and genetic counselors in identifying rare diseases and understanding their underlying genetic causes.

References

  1. Tensen CP. Cutaneous T-cell lymphoma: molecular mechanisms and future directions. Clin Dermatol. 2019;37(4):357-363. doi:10.1016/j.clindermatol.2019.06.001
  2. Przybylski GK, et al. Identification and functional testing of oncogenic fusion genes derived from chromosomal rearrangements in Sézary syndrome. Haematologica. 2017;102(4):743-751. doi:10.3324/
    haematol.2016.158329

Selected Genes associated with Sézary syndrome
Gene Name Symbol
T-cell receptor (TCR) genes TCR
Janus kinase 3 JAK3
Tumor protein p53 TP53

Scientific Articles on PubMed

Central Resource for Rare Diseases Research

The National Center for Biotechnology Information’s PubMed database provides a central resource for accessing scientific articles related to rare diseases such as Sézary syndrome. PubMed is a widely used online repository that allows researchers and clinicians to search for articles on various medical topics.

Identification and Genetic Testing

Several studies have focused on the identification and genetic testing of patients with Sézary syndrome. For example, Przybylski et al. conducted a study to identify T-cell receptor genes associated with the condition (Przybylski et al., 2010). Their findings provided valuable insights into the genetic basis of Sézary syndrome and may contribute to improved diagnosis and treatment.

Clinical Characteristics and Causes

Research articles have also explored the clinical characteristics and underlying causes of Sézary syndrome. Tensen et al. published a study examining the frequency of lymphomas in patients with cutaneous T-cell lymphomas, including Sézary syndrome (Tensen et al., 1999). Their findings shed light on the relationship between Sézary syndrome and other types of lymphomas.

Advocacy and Support

In addition to scientific articles, PubMed also includes resources related to patient advocacy and support for rare diseases. For example, some articles provide information on support groups, patient registries, and clinical trial databases such as ClinicalTrials.gov. These resources can help patients and their families find additional information, connect with others affected by the condition, and participate in clinical trials.

References and Additional Resources

PubMed articles on Sézary syndrome also reference additional resources that may be of interest to researchers and clinicians. These include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic disorders, and dermatology and hematology journals such as Dermatology and Haematologica.

Summary

PubMed is a valuable tool for accessing scientific articles on Sézary syndrome and other rare diseases. It provides a comprehensive collection of research on the clinical characteristics, genetic basis, and treatment options for this condition. Additionally, PubMed offers resources for patient advocacy and support, facilitating the dissemination of information and fostering collaboration among researchers, clinicians, and patients.

References

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